Canonical Allele Identifier: PA2580354589
Gene: SACS HGNC NCBI

Linked Data

ClinVar Variation Id: 2481331
ClinVar RCV Id: RCV003199646
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_055178.3:p.Asp2157Asn
CA387521726
NM_014363.6:c.6469G>A